Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria
Due to its rarity, this condition was initially overlooked and led to an inappropriate therapeutic approach. Pyridoxine dependency should be considered after the manifestation of refractory seizures, as increased awareness can enable early diagnosis, appropriate treatment, and avoid unnecessary use of antiepileptic drugs. However, predicting the long-term outcome remains challenging.
Authors
- Diana Alasmar (ORCID: https://orcid.org/0000-0002-9986-4110)
- Rida Jaber (ORCID: https://orcid.org/0009-0004-7979-4372)
- Ali Jawad (ORCID: https://orcid.org/0000-0002-7100-8419)
- Hadi Salame (ORCID: https://orcid.org/0009-0001-9145-7107)
- Hassan Fawaz (ORCID: https://orcid.org/0009-0006-5011-8869)
- Mostafa Zeindeen (ORCID: https://orcid.org/0009-0006-1836-3653)
Institutions
- Damascus University (SY)
Publication Details
- Journal
- BMC Neurology
- Published
- 2024-11-05
- DOI
- https://doi.org/10.1186/s12883-024-03936-1
- Citations
- 4
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.52